What are the other Names for this Condition? (Also known as/Synonyms)

• Acrocardiofacial Syndrome
• Acro-Cardio-Facial Syndrome (ACFS)
• CCGE Syndrome (Cleft Palate Cardiac Defect Genital Anomalies Ectrodactyly Syndrome)

What is Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome? (Definition/Background Information)

• Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome (CCGE Syndrome), also known as Acro-Cardio-Facial Syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit

(Source: Acrocardiofacial Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome? (Age and Sex Distribution)

• The incidence of Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome has not been determined due to the low number of reported cases (9 to date)
• A similar occurrence among genders is expected

(Source: Acrocardiofacial Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

What are the Risk Factors for Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome? (Predisposing Factors)

• A family history of Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome may be a risk factor for developing the disorder, since ACFS is an inherited disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome? (Etiology)

• The genetic mechanism underlying Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome is still unknown
• Isolated or syndromic SHFM has been linked to different loci or genes
• The disorder is inherited in an autosomal recessive manner

(Source: Acrocardiofacial Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected)

What are the Signs and Symptoms of Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome?

The signs and symptoms of Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome may vary among individuals even among affected siblings, and may include:

• Prenatal growth retardation
• Low-set dysmorphic ears
• Cleft palate
• Bilateral or unilateral cleft hand (most common)
• Cleft foot and cutaneous finger and toe syndactyly 
• Congenital heart defects of varying types
• Male genital abnormalities such as
  • Micropenis 
  • Cryptorchidism 
  • Hypospadias
• Growth retardation
• Neurological anomalies such as the following:
  • Hypotonia
  • Hypertonia
  • Seizures 

(Source: Acrocardiofacial Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome Diagnosed?

• The diagnosis of Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome is based solely on clinical characteristics. The major diagnostic criteria include SHFM and CHD 
• Cleft lip/palate and genital anomalies are less common features. Although facial anomalies are not specific to this disorder, low-set dysmorphic ears appear to be a constant feature
• Prenatal diagnosis can be made by an ultrasonographic scan in the second trimester of pregnancy

(Source: Acrocardiofacial Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome?

The complications of Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome may include:

• Delay in achieving developmental milestones
• Falls and fall injuries due to seizures
• Heart defects leading to arrhythmias and cardiac arrest
• Respiratory distress

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome Treated?

The following are recommendations for treatment of Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome:

• Cardiac and respiratory problems should be treated by specialists 
• A nutrition specialist should be consulted for feeding problems
• Surviving patients will benefit from physical therapy, which should start in the first months of life in babies manifesting hypotonia/hypertonia and motor delays
• In surviving patients, neuropsychological assessment should be performed every year to check for developmental and cognitive delay

(Source: Acrocardiofacial Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How can Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome be Prevented?

Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome? (Outcomes/Resolutions)

• The prognosis of Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome is poor
• Life expectancy in individuals suffering from this disorder is very low
• Most reported patients survived only a few hours or months. Cardiopulmonary complications were the main cause of death

(Source: Acrocardiofacial syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Additional and Relevant Useful Information for Cleft Palate-Cardiac Defect-Genital Anomalies-Ectrodactyly Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/